Varaico: Literature-Extracted Genetic Variants

Gene:PAH
Variant:p.F39C
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PAH

NM_000277.3:p.F39C

Associated Papers

Structural features of the regulatory ACT domain of phenylalanine hydroxylase.

Carluccio C et al.

Plos One, 2013

Assessment of tetrahydrobiopterin (BH(4))-responsiveness and spontaneous phenylalanine reduction in a phenylalanine hydroxylase deficiency population.

Tansek MZ et al.

Molecular Genetics and Metabolism, 2012

Significance of genotype in tetrahydrobiopterin-responsive phenylketonuria.

Trefz FK et al.

Journal of Inherited Metabolic Disease, 2009

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."